Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?

Cytogenet Genome Res. 2002;99(1-4):289-96. doi: 10.1159/000071606.


Gene identification for X-linked dominant sporadic disorders is challenging because no extended families exist that can be studied by linkage analysis. Therefore, classic positional cloning approaches are not possible, and other methods have to be used to search for candidate genes. These conditions present the next challenge for disease-gene identification of Mendelian disorders. The various issues and difficulties involved, such as male lethality, X chromosome inactivation, and analysis of phenotypic similarities among different conditions are illustrated through discussion of three X-linked developmental disorders: microphthalmia with linear skin defects (MLS) syndrome, Aicardi syndrome, and Goltz syndrome (focal dermal hypoplasia).

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Animals
  • Basal Ganglia Diseases / genetics*
  • Basal Ganglia Diseases / pathology
  • Calcinosis / pathology
  • Diagnosis, Differential
  • Disease Models, Animal
  • Focal Dermal Hypoplasia / genetics*
  • Focal Dermal Hypoplasia / pathology
  • Genes, Dominant / genetics
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / pathology
  • Humans
  • Male
  • Mice
  • Microphthalmos / genetics*
  • Microphthalmos / pathology
  • Skin Abnormalities*
  • Syndrome